A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27699



Internal ID15486578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141690747..141699030hg38UCSC Ensembl
OuterchrX:141678484..141701108hg38UCSC Ensembl
InnerchrX:140778908..140787187hg19UCSC Ensembl
OuterchrX:140766642..140789264hg19UCSC Ensembl
InnerchrX:140606574..140614853hg18UCSC Ensembl
OuterchrX:140594308..140616930hg18UCSC Ensembl
InnerchrX:140504428..140512707hg17UCSC Ensembl
OuterchrX:140492162..140514784hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg3822625
hg1922623
hg1822623
hg1722623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9984
Supporting Variants
SamplesNA18504
Known GenesSPANXD, SPANXE
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv27699
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer